Overview
Rare genetic male infertility refers to a group of inherited conditions where men are unable to father children naturally due to problems caused by changes (mutations) in their genes. These genetic changes can affect sperm production, sperm movement, sperm shape, or the ability of sperm to fertilize an egg. In some cases, no sperm are produced at all — a condition called azoospermia. In others, sperm are present but too few in number (oligospermia), move poorly (asthenospermia), or are abnormally shaped (teratospermia). Sometimes a combination of these problems occurs together. The condition is usually discovered when a man and his partner are trying to have a child without success. Most men with this condition have no other obvious health symptoms — they feel healthy and look healthy. The infertility itself is often the only sign. However, some genetic causes of male infertility are linked to other health issues, such as hormonal imbalances, undescended testicles at birth, or problems with other organs. Treatment depends on the specific genetic cause. While there is no cure that restores natural fertility in most cases, assisted reproductive technologies (ART) such as intracytoplasmic sperm injection (ICSI) — where a single sperm is injected directly into an egg — can help some men become biological fathers. Genetic counseling is an important part of care, since some gene changes can be passed on to children. Research into new treatments is ongoing, and understanding the exact genetic cause helps doctors give the best advice.
Key symptoms:
Inability to father a child after trying for 12 months or moreNo sperm found in semen (azoospermia)Very low sperm count (oligospermia)Sperm that move poorly or not at all (asthenospermia)Abnormally shaped sperm (teratospermia)Enlarged veins in the scrotum (varicocele) in some casesUndescended testicles at birth (in some genetic forms)Small testicle sizeLow testosterone levels or hormonal imbalancesAbsence of the vas deferens (the tube that carries sperm), which can be felt on physical examChronic respiratory problems in some related conditions (e.g., primary ciliary dyskinesia)Reduced or absent sex drive in some hormonal forms
Variable
Can be inherited in different ways depending on the underlying gene
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Rare genetic male infertility.
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Specialists
View all specialists →No specialists are currently listed for Rare genetic male infertility.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Rare genetic male infertility.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the specific genetic cause of my infertility, and what does that mean for my health overall?,Do I have any sperm that could be used for IVF or ICSI, and how would we find out?,Could I pass this genetic condition on to my children, including any sons?,Should my brothers or other male relatives be tested for the same condition?,What are my realistic chances of having a biological child with assisted reproduction?,Are there any other health problems I should watch for because of this genetic condition?,Where can I find emotional support or counseling to help me and my partner cope with this diagnosis?
Common questions about Rare genetic male infertility
What is Rare genetic male infertility?
Rare genetic male infertility refers to a group of inherited conditions where men are unable to father children naturally due to problems caused by changes (mutations) in their genes. These genetic changes can affect sperm production, sperm movement, sperm shape, or the ability of sperm to fertilize an egg. In some cases, no sperm are produced at all — a condition called azoospermia. In others, sperm are present but too few in number (oligospermia), move poorly (asthenospermia), or are abnormally shaped (teratospermia). Sometimes a combination of these problems occurs together. The condition
At what age does Rare genetic male infertility typically begin?
Typical onset of Rare genetic male infertility is adult. Age of onset can vary across affected individuals.